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COL18A1 Gene

protein-coding   GIFtS: 69
GCID: GC21P046825

Collagen, Type XVIII, Alpha 1

(Previous names: Knobloch syndrome, type 1)
(Previous symbol: KNO)
  See COL18A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Collagen, Type XVIII, Alpha 11 2     Human Type XVIII Collagen11
KNO1 2     KS2
endostatin1 2     Antiangiogenic Agent2
KNO12 5     Collagen Alpha-1(XVIII) Chain2
Knobloch Syndrome, Type 11     Multi-Functional Protein MFP2

External Ids:    HGNC: 21951   Entrez Gene: 807812   Ensembl: ENSG000001828717   OMIM: 1203285   UniProtKB: P390603   

Export aliases for COL18A1 gene to outside databases

Previous GC identifers: GC21P043334 GC21P045681 GC21P045649 GC21P032201


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COL18A1 Gene:
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular
matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous
domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent
antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this
syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure
and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Sep 2008)

GeneCards Summary for COL18A1 Gene:
COL18A1 (collagen, type XVIII, alpha 1) is a protein-coding gene. Diseases associated with COL18A1 include encephalocele, and knobloch syndrome. GO annotations related to this gene include structural molecule activity and identical protein binding. An important paralog of this gene is COL15A1.

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of
the neural tube
Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis
by binding to the heparan sulfate proteoglycans involved in growth factor signaling

Gene Wiki entry for COL18A1 (Collagen, type XVIII, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL18A1 gene promoter:
         p53   STAT3   NF-kappaB   NF-kappaB1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL18A1 promoter sequence

   Search Chromatin IP Primers for COL18A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL18A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
COL18A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL18A1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P046825:   GeneLoc Nature:405,311-319
Start:
46,825,052 bp from pter       32,384,934 bp from centromere
End:
46,933,634 bp from pter 32,443,158 bp from centromere
Size:
108,583 bases 58,225 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: AF018081
genomic clones: P310E12 BAC-53I10


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 (See protein sequence)
Recommended Name: Collagen alpha-1(XVIII) chain precursor  
Size: 1754 amino acids; 178188 Da
3 PDB 3D structures from and Proteopedia for COL18A1:
1BNL (3D)        3HON (3D)        3HSH (3D)    
Secondary accessions: A8MVI4 Q58EX6 Q6RZ39 Q6RZ40 Q6RZ41 Q8N4S4 Q8WXI5 Q96T70 Q9UK38 Q9Y6Q7
Q9Y6Q8
Alternative promoter usage, Alternative splicing: 3 isoforms:  P39060-3   P39060-1   P39060-2   (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for COL18A1: NX_P39060

Explore proteomics data for COL18A1 at MOPED

Post-translational modifications: 

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are
    hydroxylated1
  • Glycosylation2 at Asn68, Asn129, Asn164, Asn691, Thr1292, Ser1304, Thr1332
  • Modification sites at PhosphoSitePlus

  • See COL18A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_085059.2  NP_569712.2  

    ENSEMBL proteins: 
     ENSP00000383191   ENSP00000347665   ENSP00000339118   ENSP00000415692   ENSP00000352798  
    Reactome Protein details: P39060

    COL18A1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant COL18A1 Protein
    R&D Systems Recombinant & Natural Proteins for COL18A1 (Endostatin)
    Enzo Life Sciences proteins for COL18A1
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for COL18A1
    GenScript Purified and Recombinant Proteins for COL18A1
    Novus Biologicals COL18A1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for COL18A1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for COL18A1 

    COL18A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of COL18A1
    R&D Systems Antibodies for COL18A1 (Endostatin)
    OriGene Antibodies for COL18A1
    OriGene Custom Antibody Services for COL18A1
    Novus Biologicals COL18A1 Antibodies
    Abcam antibodies for COL18A1 (P39059, P39060)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for COL18A1
    LSBio Antibodies in human, mouse, rat for COL18A1

    COL18A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COL18A1
    R&D Systems ELISAs for COL18A1 (Endostatin)         (see all)
    GenScript Custom Assay Services for COL18A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for COL18A1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    COLLAGEN: Collagens

    Selected InterPro protein domains (see all 9):
     IPR026917 COL18A1
     IPR001791 Laminin_G
     IPR020067 Frizzled_dom
     IPR016187 C-type_lectin_fold
     IPR010515 Collagenase_NC10/endostatin

    Graphical View of Domain Structure for InterPro Entry P39060

    ProtoNet protein and cluster: P39060

    5 Blocks protein domains:
    IPB001791 Laminin G
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat
    IPB010515 Collagenase NC10 and endostatin


    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
    Similarity: Belongs to the multiplexin collagen family
    Similarity: Contains 1 FZ (frizzled) domain
    Similarity: Contains 1 laminin G-like domain


    Find genes that share domains with COL18A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COIA1_HUMAN, P39060
    Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of
    the neural tube
    Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis
    by binding to the heparan sulfate proteoglycans involved in growth factor signaling

         Genatlas biochemistry entry for COL18A1:
    collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI17615292
    GO:0042802identical protein binding IPI16269408
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with COL18A1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Col18a1):
     cardiovascular system  craniofacial  homeostasis/metabolism  nervous system  other 
     renal/urinary system  skeleton  tumorigenesis  vision/eye 

    Find genes that share phenotypes with COL18A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for COL18A1: Col18a1tm1(KOMP)Vlcg Col18a1tm1Hms

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL18A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL18A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL18A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL18A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL18A1:
    hsa-mir-92a-3p (MIRT049203), hsa-mir-877-3p (MIRT037044)

    Block miRNA regulation of human, mouse, rat COL18A1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate COL18A1:
    hsa-miR-9 hsa-miR-526b hsa-miR-516a-3p hsa-miR-516b* hsa-miR-578 hsa-miR-3159
    SwitchGear 3'UTR luciferase reporter plasmidCOL18A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL18A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL18A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL18A1

    Clone
    Products:
         
    OriGene clones in human, mouse for COL18A1 (see all 12)
    OriGene ORF clones in mouse, rat for COL18A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): COL18A1 (NM_030582)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL18A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for COL18A1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COIA1_HUMAN, P39060: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular4
    plasma membrane3
    cytoskeleton1
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    vacuole1

    Gene Ontology (GO): 7 cellular component terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012colocalizes with extracellular matrix TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with COL18A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COL18A1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    Assembly of collagen fibrils and other multimeric structures0.62
    2Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56


    Find genes that share SuperPaths with COL18A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL18A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    2 BioSystems Pathways for COL18A1
        FOXA1 transcription factor network
    Direct p53 effectors

    Selected Reactome Pathways for COL18A1 (see all 6)
        Laminin interactions
    Integrin cell surface interactions
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation


    1 Kegg Pathway  (Kegg details for COL18A1):
        Protein digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL18A1: 
              Endothelial Cell Biology in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for COL18A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for COL18A1 (P390601, 3 ENSP000003527984) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TECPR1Q7Z6L13, ENSP000004049234I2D: score=3 STRING: ENSP00000404923
    KDRP359683, ENSP000002639234I2D: score=1 STRING: ENSP00000263923
    TGM2P219801, ENSP000003553304EBI-2566375,EBI-727668 STRING: ENSP00000355330
    NCLP193381, ENSP000003181954EBI-2566375,EBI-346967 STRING: ENSP00000318195
    APPP050671EBI-2566375,EBI-821758
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001886endothelial cell morphogenesis IEA--
    GO:0007155cell adhesion IEA--
    GO:0007601visual perception TAS10942434
    GO:0008284positive regulation of cell proliferation IEA--

    Find genes that share ontologies with COL18A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COL18A1 (COIA1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COL18A1 gene (3 alternative transcripts): 
    NM_030582.3  NM_130445.2  NM_130444.2  

    Unigene Cluster for COL18A1:

    Collagen, type XVIII, alpha 1
    Hs.517356  [show with all ESTs]
    Unigene Representative Sequence: AF018081
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400337(uc002zhg.3) ENST00000355480(uc002zhi.3) ENST00000342220(uc002zhj.3 uc002zhk.3)
    ENST00000459895 ENST00000423214 ENST00000473212 ENST00000359759
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate COL18A1:
    hsa-miR-9 hsa-miR-526b hsa-miR-516a-3p hsa-miR-516b* hsa-miR-578 hsa-miR-3159
    SwitchGear 3'UTR luciferase reporter plasmidCOL18A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL18A1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): COL18A1 (NM_030582)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL18A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COL18A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL18A1
      QuantiTect SYBR Green Assays in human, mouse, rat COL18A1
      QuantiFast Probe-based Assays in human, mouse, rat COL18A1

    Additional mRNA sequence: 

    AF018081.1 AF018082.1 AF184060.1 AF333246.1 AF333247.1 AF416592.1 AK098216.1 AK130835.1 
    AK311062.1 BC033715.1 BC063833.1 

    19 DOTS entries:

    DT.447571  DT.92001135  DT.91912586  DT.95302146  DT.121139495  DT.101985460  DT.100039632  DT.99986442 
    DT.95220877  DT.92436231  DT.100034049  DT.100039626  DT.40116647  DT.100039627  DT.95090195  DT.95349603 
    DT.100798481  DT.91744920  DT.99955859 

    Selected AceView cDNA sequences (see all 195):

    BG106854 AA350510 AA350511 AA470378 BU680493 AI076853 AK127669 AA350512 
    R86040 AA913825 AI814596 T28473 AA069352 AI738703 BU502539 BE881571 
    AI858077 AI970756 AA743360 AI763165 AI660746 AA731506 BQ003811 AI074505 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COL18A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATCCTCAA
    COL18A1 Expression
    About this image


    COL18A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Thymus (Hematopoietic System)
             Thymus
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    COL18A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL18A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517356

    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
    Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL18A1: 
              Endothelial Cell Biology in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL18A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL18A1
    QuantiTect SYBR Green Assays in human, mouse, rat COL18A1
    QuantiFast Probe-based Assays in human, mouse, rat COL18A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for COL18A1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col18a11 , 5 collagen, type XVIII, alpha 11, 5 75.59(n)1
    75.49(a)1
      10 (39.72 cM)5
    128221  NM_001109991.11  NP_001103461.11 
     770521785 
    chicken
    (Gallus gallus)
    Aves COL18A11 collagen, type XVIII, alpha 1 67.21(n)
    68.86(a)
      373978  NM_204164.1  NP_989495.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL18A16
    collagen, type XVIII, alpha 1
    56(a)
    1 ↔ 1
    1(90395003-90458517)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB047066.12   -- 74.53(n)    AB047066.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AJ494837.12   -- 75.34(n)   360140  AJ494837.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mp6
    multiplexin
    29(a)
    1 → many
    3L(6991943-7046528)
    worm
    (Caenorhabditis elegans)
    Secernentea cle-13 cle-1 isoform A 33(a)   I(8714046-8732339)   --


    ENSEMBL Gene Tree for COL18A1 (if available)
    TreeFam Gene Tree for COL18A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL18A1 gene
    COL15A12  
    1 SIMAP similar gene for COL18A1 using alignment to 6 protein entries:     COIA1_HUMAN (see all proteins):
    COLQ

    Find genes that share paralogs with COL18A1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    COIA1_HUMAN, P39060: There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous
    Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous
    Asp-1675 individuals


    Selected SNPs for COL18A1 (see all 3734)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124833771,2,,4
    C,F,Hpathogenic146931109(+) CCTTTG/AACGGC 4 /N /D mis1 ese331Minor allele frequency- A:0.04NA NS EA MN EU 3505
    rs1911348801,2
    --46823185(+) CCCTGC/TCCCAG 1 -- us2k10--------
    rs1467271841,2
    --46823307(+) ATGGGG/TTGGGT 1 -- us2k10--------
    rs1403673981,2
    C--46823339(+) GGCAGA/GTGAGA 1 -- us2k10--------
    rs124825791,2
    H--46823369(+) CTGCAC/GTGCAG 1 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs786019091,2
    C,F--46823375(+) TGCAGG/CGTTAA 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs758842651,2
    C,F--46823382(+) TTAATG/TGACAG 1 -- us2k12Minor allele frequency- T:0.04CSA WA 120
    rs1833174191,2
    --46823512(+) ACAGAA/CACACA 1 -- us2k10--------
    rs1396933531,2
    C--46823544(+) GAGAG-/ACAT  
      GCACAC
    ACATG
    1 -- us2k10--------
    rs1868512501,2
    --46823702(+) TGTGCA/GATGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COL18A1 (46825052 - 46933634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL18A1 (see all 74):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723773CNV Deletion23290073
    esv2723784CNV Deletion23290073
    esv2723770CNV Deletion23290073
    dgv764e201CNV Deletion23290073
    esv2660971CNV Deletion23128226
    esv2570683CNV Deletion19546169
    esv2723753CNV Deletion23290073
    esv2723765CNV Deletion23290073
    esv2723781CNV Deletion23290073
    esv2723771CNV Deletion23290073

    Human Gene Mutation Database (HGMD): COL18A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL18A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL18A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 120328   
    OMIM disorders: 267750  
    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
  • Knobloch syndrome 1 (KNO1) [MIM:267750]: A developmental disorder primarily characterized by typical eye
    abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal
    detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for COL18A1:    
    About MalaCards
    encephalocele    knobloch syndrome    knobloch syndrome type i    occipital encephalocele
    pyridoxine deficiency    funisitis    encephaloceles    diabetes, type 2

    1 disease from the University of Copenhagen DISEASES database for COL18A1:
    Lung cancer

    Find genes that share disorders with COL18A1           About GenesLikeMe

    3 Novoseek inferred disease relationships for COL18A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    knobloch syndrome 98.5 6 19390655 (2), 14695535 (1), 17546652 (1), 18484314 (1) (see all 5)
    occipital encephalocele 81.6 1 15857886 (1)
    tumors 0 1 20212451 (1)

    Genetic Association Database (GAD): COL18A1
    Human Genome Epidemiology (HuGE) Navigator: COL18A1 (19 documents)
    Tumor Gene Database (TGDB): COL18A1

    Export disorders for COL18A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for COL18A1 gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with COL18A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure. (PubMed id 10942434)1, 2, 3, 9 Sertie A.L....Passos-Bueno M.R. (Hum. Mol. Genet. 2000)
    2. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. (PubMed id 8188291)1, 2, 3, 9 Oh S.P....Olsen B.R. (Genomics 1994)
    3. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (PubMed id 14695535)1, 2, 9 Menzel O.... Guipponi M. (Hum. Mutat. 2004)
    4. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). (PubMed id 19961619)1, 4, 9 Castro-Giner F....de Cid R. (BMC Med. Genet. 2009)
    5. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. (PubMed id 16807676)1, 4, 9 LourenAso G.J....Lima C.S. (Breast Cancer Res. Treat. 2006)
    6. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PubMed id 17546652)1, 3, 9 Keren B....Verloes A. (Am. J. Med. Genet. A 2007)
    7. No evidence for locus heterogeneity in Knobloch syndrome. (PubMed id 23667181)1, 2 Aldahmesh M.A....Alkuraya F.S. (J. Med. Genet. 2013)
    8. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    9. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    10. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80781 HGNC: 2195 AceView: SLC19A1 Ensembl:ENSG00000182871 euGenes: HUgn80781
    ECgene: COL18A1 Kegg: 80781 H-InvDB: COL18A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for COL18A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL18A1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL18A1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL18A1 gene:
    Search GeneIP for patents involving COL18A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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